Mutagenetix > Incidental Mutation

Incidental Mutation 'R0963:Dhx57'

81418

Institutional Source

Beutler Lab

Gene Symbol

Dhx57

Ensembl Gene

ENSMUSG00000035051

Gene Name

DExH-box helicase 57

Synonyms

MMRRC Submission

039092-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.190) question?

Stock #

R0963 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80545733-80597620 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80582956 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 163 (H163Q)

Ref Sequence

ENSEMBL: ENSMUSP00000041069 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038166] [ENSMUST00000086555]

AlphaFold

Q6P5D3

Predicted Effect

probably benign
Transcript: ENSMUST00000038166
AA Change: H163Q

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000041069
Gene: ENSMUSG00000035051
AA Change: H163Q

Domain	Start	End	E-Value	Type
low complexity region	6	50	N/A	INTRINSIC
low complexity region	116	125	N/A	INTRINSIC
UBA	129	166	1.04e-3	SMART
ZnF_C3H1	246	272	4.07e-6	SMART
low complexity region	357	368	N/A	INTRINSIC
low complexity region	381	390	N/A	INTRINSIC
low complexity region	423	432	N/A	INTRINSIC
DEXDc	490	678	1.27e-28	SMART
Blast:DEXDc	688	752	2e-28	BLAST
HELICc	810	918	3.22e-16	SMART
HA2	984	1074	1.64e-24	SMART
Pfam:OB_NTP_bind	1113	1262	1.5e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000086555
AA Change: H216Q

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000083742
Gene: ENSMUSG00000035051
AA Change: H216Q

Domain	Start	End	E-Value	Type
low complexity region	6	50	N/A	INTRINSIC
low complexity region	169	178	N/A	INTRINSIC
UBA	182	219	1.04e-3	SMART
ZnF_C3H1	299	325	4.07e-6	SMART
low complexity region	410	421	N/A	INTRINSIC
low complexity region	434	443	N/A	INTRINSIC
low complexity region	476	485	N/A	INTRINSIC
DEXDc	543	731	1.27e-28	SMART
Blast:DEXDc	741	805	1e-28	BLAST
HELICc	863	971	3.22e-16	SMART
HA2	1037	1127	1.64e-24	SMART
Pfam:OB_NTP_bind	1166	1315	8.5e-25	PFAM

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.1%
20x: 94.3%

Validation Efficiency

Allele List at MGI

All alleles(25) : Gene trapped(25)

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb2	A	G	13: 8,722,451 (GRCm39)	D369G	probably damaging	Het
Adcy7	T	C	8: 89,038,893 (GRCm39)	V303A	probably damaging	Het
Afap1l1	A	T	18: 61,870,001 (GRCm39)	Y610N	probably damaging	Het
Agr3	T	A	12: 35,984,433 (GRCm39)	H53Q	probably benign	Het
Akr1d1	A	G	6: 37,507,209 (GRCm39)	I10M	probably damaging	Het
Atp4b	G	T	8: 13,440,014 (GRCm39)	H111N	probably benign	Het
Bbs7	G	T	3: 36,667,412 (GRCm39)	A8E	probably benign	Het
Bsn	C	T	9: 107,989,006 (GRCm39)	V2249M	possibly damaging	Het
Cpt1a	T	C	19: 3,431,634 (GRCm39)	S685P	probably damaging	Het
Duox2	A	C	2: 122,117,653 (GRCm39)	C894G	probably benign	Het
Ecm1	T	C	3: 95,643,900 (GRCm39)	T209A	possibly damaging	Het
Glo1	T	C	17: 30,819,085 (GRCm39)	N79S	probably benign	Het
Htra1	T	A	7: 130,584,009 (GRCm39)	M388K	possibly damaging	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Jag2	C	T	12: 112,878,934 (GRCm39)	E496K	probably damaging	Het
Kcnh2	C	T	5: 24,527,670 (GRCm39)	R894H	probably damaging	Het
Khdc1c	A	G	1: 21,439,833 (GRCm39)	N128S	probably benign	Het
Lamc1	T	C	1: 153,119,132 (GRCm39)	N829S	probably benign	Het
Leprotl1	T	C	8: 34,606,189 (GRCm39)	Y33C	probably damaging	Het
Lypd11	A	T	7: 24,423,047 (GRCm39)	D90E	probably benign	Het
Map3k3	T	A	11: 106,014,618 (GRCm39)	S130T	probably benign	Het
Mip	C	T	10: 128,061,854 (GRCm39)	A35V	probably benign	Het
Ms4a19	T	C	19: 11,118,921 (GRCm39)	T63A	possibly damaging	Het
Myh15	A	G	16: 48,952,512 (GRCm39)	R861G	probably damaging	Het
Myom1	A	C	17: 71,384,762 (GRCm39)	I718L	possibly damaging	Het
Naip6	C	T	13: 100,452,983 (GRCm39)	R26H	probably benign	Het
Or52e4	G	A	7: 104,706,179 (GRCm39)	C242Y	probably damaging	Het
Pde6b	A	G	5: 108,578,534 (GRCm39)	E824G	probably benign	Het
Pramel24	T	A	4: 143,453,678 (GRCm39)	I262N	possibly damaging	Het
Rbm19	T	G	5: 120,268,799 (GRCm39)	S476A	possibly damaging	Het
Rpl39l	T	A	16: 9,992,162 (GRCm39)		probably null	Het
Sec24b	A	G	3: 129,834,554 (GRCm39)	S79P	probably benign	Het
Slc15a2	G	A	16: 36,594,935 (GRCm39)	A146V	probably damaging	Het
Slmap	T	C	14: 26,189,675 (GRCm39)	Y161C	probably damaging	Het
Smc4	T	A	3: 68,933,259 (GRCm39)	C652S	probably damaging	Het
Stab1	A	G	14: 30,869,231 (GRCm39)	I1499T	probably damaging	Het
Tnnt1	A	G	7: 4,510,594 (GRCm39)	L209P	probably damaging	Het
Trim52	T	G	14: 106,344,973 (GRCm39)	S210R	probably benign	Het
Tsc22d1	T	A	14: 76,656,039 (GRCm39)	N82K	possibly damaging	Het
Wdr75	T	C	1: 45,856,470 (GRCm39)	Y498H	probably benign	Het
Zfp955a	C	T	17: 33,462,726 (GRCm39)	S56N	probably benign	Het

Other mutations in Dhx57

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00642:Dhx57	APN	17	80,582,405 (GRCm39)	missense	probably benign	0.00
IGL00811:Dhx57	APN	17	80,560,672 (GRCm39)	missense	probably damaging	1.00
IGL01389:Dhx57	APN	17	80,588,652 (GRCm39)	missense	probably benign	0.28
IGL01468:Dhx57	APN	17	80,563,039 (GRCm39)	nonsense	probably null
IGL01908:Dhx57	APN	17	80,558,872 (GRCm39)	missense	probably damaging	1.00
IGL01965:Dhx57	APN	17	80,576,279 (GRCm39)	missense	probably damaging	1.00
IGL02147:Dhx57	APN	17	80,567,752 (GRCm39)	missense	possibly damaging	0.95
IGL02275:Dhx57	APN	17	80,582,268 (GRCm39)	missense	probably benign	0.13
IGL02349:Dhx57	APN	17	80,563,000 (GRCm39)	missense	probably damaging	1.00
IGL02405:Dhx57	APN	17	80,562,979 (GRCm39)	critical splice donor site	probably null
IGL02588:Dhx57	APN	17	80,576,300 (GRCm39)	missense	probably damaging	1.00
IGL02673:Dhx57	APN	17	80,574,974 (GRCm39)	missense	probably damaging	1.00
IGL02836:Dhx57	APN	17	80,574,978 (GRCm39)	missense	probably damaging	1.00
IGL02889:Dhx57	APN	17	80,554,581 (GRCm39)	missense	possibly damaging	0.90
IGL03085:Dhx57	APN	17	80,565,526 (GRCm39)	missense	possibly damaging	0.48
P0014:Dhx57	UTSW	17	80,582,620 (GRCm39)	missense	probably benign	0.00
PIT4377001:Dhx57	UTSW	17	80,571,404 (GRCm39)	missense	probably damaging	0.96
R0100:Dhx57	UTSW	17	80,582,585 (GRCm39)	missense	possibly damaging	0.82
R0100:Dhx57	UTSW	17	80,582,585 (GRCm39)	missense	possibly damaging	0.82
R0129:Dhx57	UTSW	17	80,546,343 (GRCm39)	missense	probably damaging	1.00
R0200:Dhx57	UTSW	17	80,558,902 (GRCm39)	missense	probably damaging	1.00
R0309:Dhx57	UTSW	17	80,582,310 (GRCm39)	missense	probably damaging	1.00
R0375:Dhx57	UTSW	17	80,565,550 (GRCm39)	missense	probably damaging	1.00
R0396:Dhx57	UTSW	17	80,582,226 (GRCm39)	missense	probably benign	0.34
R0520:Dhx57	UTSW	17	80,565,604 (GRCm39)	missense	possibly damaging	0.95
R0554:Dhx57	UTSW	17	80,567,665 (GRCm39)	nonsense	probably null
R0661:Dhx57	UTSW	17	80,576,293 (GRCm39)	missense	probably damaging	1.00
R0883:Dhx57	UTSW	17	80,577,800 (GRCm39)	missense	probably damaging	1.00
R0900:Dhx57	UTSW	17	80,583,011 (GRCm39)	missense	probably benign
R1469:Dhx57	UTSW	17	80,561,847 (GRCm39)	missense	probably damaging	1.00
R1469:Dhx57	UTSW	17	80,561,847 (GRCm39)	missense	probably damaging	1.00
R1660:Dhx57	UTSW	17	80,553,157 (GRCm39)	missense	possibly damaging	0.83
R1707:Dhx57	UTSW	17	80,582,655 (GRCm39)	missense	probably damaging	0.96
R1822:Dhx57	UTSW	17	80,560,514 (GRCm39)	critical splice donor site	probably null
R1853:Dhx57	UTSW	17	80,582,308 (GRCm39)	nonsense	probably null
R1942:Dhx57	UTSW	17	80,572,573 (GRCm39)	missense	probably damaging	1.00
R2043:Dhx57	UTSW	17	80,560,509 (GRCm39)	splice site	probably benign
R2106:Dhx57	UTSW	17	80,582,792 (GRCm39)	missense	probably damaging	1.00
R2127:Dhx57	UTSW	17	80,580,477 (GRCm39)	missense	probably damaging	1.00
R2183:Dhx57	UTSW	17	80,582,760 (GRCm39)	missense	probably benign	0.07
R2249:Dhx57	UTSW	17	80,588,663 (GRCm39)	missense	probably damaging	0.98
R2400:Dhx57	UTSW	17	80,567,845 (GRCm39)	missense	probably damaging	0.99
R2404:Dhx57	UTSW	17	80,561,733 (GRCm39)	missense	probably damaging	0.98
R2513:Dhx57	UTSW	17	80,549,378 (GRCm39)	splice site	probably null
R2869:Dhx57	UTSW	17	80,558,805 (GRCm39)	missense	probably benign	0.22
R2869:Dhx57	UTSW	17	80,558,805 (GRCm39)	missense	probably benign	0.22
R2870:Dhx57	UTSW	17	80,558,805 (GRCm39)	missense	probably benign	0.22
R2870:Dhx57	UTSW	17	80,558,805 (GRCm39)	missense	probably benign	0.22
R2871:Dhx57	UTSW	17	80,558,805 (GRCm39)	missense	probably benign	0.22
R2871:Dhx57	UTSW	17	80,558,805 (GRCm39)	missense	probably benign	0.22
R2874:Dhx57	UTSW	17	80,558,805 (GRCm39)	missense	probably benign	0.22
R3819:Dhx57	UTSW	17	80,572,503 (GRCm39)	critical splice donor site	probably null
R3964:Dhx57	UTSW	17	80,572,541 (GRCm39)	nonsense	probably null
R4535:Dhx57	UTSW	17	80,582,511 (GRCm39)	missense	probably damaging	1.00
R4666:Dhx57	UTSW	17	80,582,390 (GRCm39)	missense	probably damaging	1.00
R4788:Dhx57	UTSW	17	80,582,760 (GRCm39)	missense	probably benign	0.01
R4822:Dhx57	UTSW	17	80,549,596 (GRCm39)	splice site	probably null
R4863:Dhx57	UTSW	17	80,560,540 (GRCm39)	missense	probably damaging	1.00
R4988:Dhx57	UTSW	17	80,558,827 (GRCm39)	missense	probably damaging	1.00
R5391:Dhx57	UTSW	17	80,582,510 (GRCm39)	missense	probably damaging	1.00
R5559:Dhx57	UTSW	17	80,561,808 (GRCm39)	missense	possibly damaging	0.53
R5644:Dhx57	UTSW	17	80,546,302 (GRCm39)	missense	possibly damaging	0.73
R5997:Dhx57	UTSW	17	80,553,235 (GRCm39)	missense	probably damaging	0.96
R6090:Dhx57	UTSW	17	80,571,375 (GRCm39)	critical splice donor site	probably null
R6177:Dhx57	UTSW	17	80,580,395 (GRCm39)	missense	possibly damaging	0.91
R6283:Dhx57	UTSW	17	80,582,234 (GRCm39)	missense	probably benign	0.00
R6802:Dhx57	UTSW	17	80,582,750 (GRCm39)	missense	probably benign	0.43
R6924:Dhx57	UTSW	17	80,546,244 (GRCm39)	missense	possibly damaging	0.71
R7151:Dhx57	UTSW	17	80,580,476 (GRCm39)	missense	probably damaging	1.00
R7386:Dhx57	UTSW	17	80,575,006 (GRCm39)	missense	possibly damaging	0.89
R7393:Dhx57	UTSW	17	80,563,000 (GRCm39)	missense	probably damaging	1.00
R7451:Dhx57	UTSW	17	80,554,542 (GRCm39)	missense	probably damaging	1.00
R7602:Dhx57	UTSW	17	80,582,290 (GRCm39)	missense	probably benign	0.06
R7733:Dhx57	UTSW	17	80,572,503 (GRCm39)	critical splice donor site	probably null
R7748:Dhx57	UTSW	17	80,572,546 (GRCm39)	missense	probably damaging	1.00
R7749:Dhx57	UTSW	17	80,546,287 (GRCm39)	missense	probably benign	0.04
R7772:Dhx57	UTSW	17	80,580,507 (GRCm39)	missense	possibly damaging	0.71
R8213:Dhx57	UTSW	17	80,582,585 (GRCm39)	missense	possibly damaging	0.82
R8370:Dhx57	UTSW	17	80,553,192 (GRCm39)	missense	probably damaging	1.00
R8371:Dhx57	UTSW	17	80,582,919 (GRCm39)	missense	probably benign	0.18
R8403:Dhx57	UTSW	17	80,585,718 (GRCm39)	missense	probably damaging	1.00
R8467:Dhx57	UTSW	17	80,561,853 (GRCm39)	missense	probably damaging	1.00
R8690:Dhx57	UTSW	17	80,577,794 (GRCm39)	critical splice donor site	probably benign
R9210:Dhx57	UTSW	17	80,576,338 (GRCm39)	missense	probably damaging	1.00
R9212:Dhx57	UTSW	17	80,576,338 (GRCm39)	missense	probably damaging	1.00
R9447:Dhx57	UTSW	17	80,549,523 (GRCm39)	missense	probably damaging	1.00
R9562:Dhx57	UTSW	17	80,561,817 (GRCm39)	missense	probably damaging	1.00
R9669:Dhx57	UTSW	17	80,553,130 (GRCm39)	missense	probably benign	0.09
R9717:Dhx57	UTSW	17	80,582,447 (GRCm39)	missense	probably damaging	1.00
Z1088:Dhx57	UTSW	17	80,558,777 (GRCm39)	missense	probably damaging	1.00
Z1176:Dhx57	UTSW	17	80,553,234 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CCAGTTCCAATCCAATGGTCCAGAC -3'
(R):5'- GGCAGTGCAGAAACTTTCCAGGTG -3'

Sequencing Primer
(F):5'- AATCCAATGGTCCAGACTCTGTTC -3'
(R):5'- TATCATGACAGTGCCCGTAG -3'

Posted On

2013-11-07